A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies. [ https://clinicalgenome.org/affiliation/40006/ http://www.ncbi.nlm.nih.gov/pubmed/29436146 http://www.ncbi.nlm.nih.gov/pubmed/31021519 http://www.ncbi.nlm.nih.gov/pubmed/17377962 ]
Synonyms: SATB2 associated disorder SAS SATB2-associated syndrome
Term information
- Orphanet:576278 (MONDO:equivalentTo)
- GARD:22326 (Orphanet:576278)
gard_rare, rare, nord_rare, orphanet_rare, clingen